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A human XY female with a frame shift mutation in the candidate testis-determining gene SRY

✍ Scribed by Jäger, Ralf J.; Anvret, Maria; Hall, Kerstin; Scherer, Gerd


Book ID
109766642
Publisher
Nature Publishing Group
Year
1990
Tongue
English
Weight
516 KB
Volume
348
Category
Article
ISSN
0028-0836

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A familial mutation in the testis-determ
✍ Ralf J. Jäger; Vincent R. Harley; Rudolf A. Pfeiffer; Peter N. Goodfellow; Gerd 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 831 KB

A familial mutation in SRY, the gene coding for the testis-determining factor TDF, was identified in an XY female with gonadal dysgenesis, her father, her two brothers and her uncle. The mutation consists of a T to C transition in the region of the SRY gene coding for a protein motif known as the hi